Three ESR1 and one ESR2 gene polymorphisms are connected with the presence of metabolic syndrome in postmenopausal women”

Data are connected to the article entitled “Associations of ESR1 and ESR2 gene polymorphisms with the presence of metabolic syndrome and its components in postmenopausal women” sent to Maturitas journal.
Objectives: Metabolic syndrome (MS) concerns one fourth of Polish people and leads to diabetes mellitus type 2 and ischemic heart disease. Postmenopausal women are highly affected by MS due to the lack of protective effects of oestrogens. In the near future, because of the extension of life expectancy, the number of postmenopausal women will increase substantially. Therefore, investigating both the environmental and genetic factors predisposing to MS development has a great impact on women’s health. The aim of this study was to find out whether having particular oestrogen receptor (ESR) genes polymorphisms can predispose to the development of MS in women after menopause. Study design: The sample consisted of 147 postmenopausal women. Apart from collecting careful medical history and analyzing body composition, patient’s waist size, blood pressure, serum lipids, glucose, insulin, C-reactive protein and adiponectin were measured. The analysis of ESR genes polymorphisms was performed using Sequenom MassARRAY platform. Results: Three out of ten analyzed polymorphisms in ESR1 gene (rs2234693, rs6902771, rs7774230) and one out of eight analyzed polymorphisms in ESR2 gene (rs3020449) were associated with MS. The ESR1 rs2234693, rs6902771 and rs7774230 polymorphisms were associated with serum high-density lipoprotein concentrations. The ESR2 rs3020449 polymorphism was associated with serum total cholesterol and serum low-density lipoprotein concentrations. Four ESR1 polymorphisms (rs1709183, rs2234693, rs6902771, rs7774230) were associated with total fat tissue content. Conclusions: Bearing the particular alleles at the ESR gene polymorphisms may impact the development of MS and some of the ESR polymorphisms may influence serum cholesterol concentrations in women after menopause.

本数据集关联于投稿至《Maturitas》期刊的题为《雌激素受体1（ESR1）与雌激素受体2（ESR2）基因多态性与绝经后女性代谢综合征（metabolic syndrome, MS）及其组分的相关性》的研究论文。

研究目的：代谢综合征（MS）影响了四分之一的波兰人群，可诱发2型糖尿病与缺血性心脏病。由于雌激素的保护作用缺失，绝经后女性受MS的影响尤为严重。随着预期寿命的延长，绝经后女性的人数在未来将大幅增长。因此，探究诱发MS发生的环境与遗传因素，对女性健康具有重要意义。本研究旨在明确：携带特定雌激素受体（oestrogen receptor, ESR）基因多态性，是否会增加绝经后女性罹患MS的风险。

研究设计：本研究纳入147名绝经后女性作为研究对象。研究人员详细收集受试者的病史资料并分析其身体成分，同时测量了受试者的腰围、血压、血脂、血糖、胰岛素、C反应蛋白与脂联素水平。采用Sequenom MassARRAY平台对ESR基因多态性进行检测分析。

研究结果：本研究检测的10个ESR1基因多态性位点中，有3个（rs2234693、rs6902771、rs7774230）与MS存在相关性；检测的8个ESR2基因多态性位点中，有1个（rs3020449）与MS存在相关性。ESR1基因的rs2234693、rs6902771与rs7774230多态性位点，与血清高密度脂蛋白胆固醇水平相关。ESR2基因的rs3020449多态性位点，与血清总胆固醇及低密度脂蛋白胆固醇水平相关。ESR1基因的4个多态性位点（rs1709183、rs2234693、rs6902771、rs7774230）与体脂总量相关。

研究结论：携带特定ESR基因多态性位点的等位基因，可能影响绝经后女性MS的发生发展；部分ESR基因多态性还可能对血清胆固醇水平产生调控作用。